A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss

Hereditary spastic paraplegias (HSPs) are well‐characterized disorders but rarely reported in Africa. We evaluated a Malian family in which three individuals had HSP and distal muscle atrophy and sensory loss. HSP panel testing identified a novel heterozygous missense mutation in KIF5A (c.1086G>C...

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Detalles Bibliográficos
Autores principales: Guinto, Cheick O., Diarra, Salimata, Diallo, Salimata, Cissé, Lassana, Coulibaly, Thomas, Diallo, Seybou H., Taméga, Abdoulaye, Chen, Ke‐Lian, Schindler, Alice B., Bagayoko, Koumba, Simaga, Assiatou, Blackstone, Craig, Fischbeck, Kenneth H., Landouré, Guida
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376762/
https://www.ncbi.nlm.nih.gov/pubmed/28382308
http://dx.doi.org/10.1002/acn3.402

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